SMARCA4
The information for this summary of SMARCA4-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SMARCA4 Gene Guide
The online Gene Guide includes more information about SMARCA4 such as the chance of having another child with this condition, behavior and development concerns linked to SMARCA4-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SMARCA4-related syndrome is also called Coffin-Siris syndrome 4 and otosclerosis-12 (OTSC12). For this webpage, we will be using the name SMARCA4-related syndrome to encompass the wide range of variants observed in the people identified.
What is SMARCA4-related syndrome?
SMARCA4-related syndrome happens when there are changes in the SMARCA4 gene. These changes can keep the gene from working as it should.
Key Role
The SMARCA4 gene plays a role in controlling other genes during development.
Symptoms
Because the SMARCA4 gene is important for brain activity, many people who have SMARCA4-related syndrome have:
- Developmental delay
- Intellectual disability
- Behavioral features
- Motor delays
- Language impairments
- Hearing loss
- Low muscle tone, also called hypotonia
- Delayed bone development
- Sideways curve of the spine, also called scoliosis
- Shorter than average height
How many people have Coffin-Siris syndrome?
As of 2024, at least 50 people with SMARCA4-related syndrome have been identified in a medical clinic.
Learn more about SMARCA4 (previously known as BAF190)and connect with other Simons Searchlight families with the resources below.
Support Resources
- Simons Searchlight Community – SMARCA4 Facebook group
- Coffin-Siris Foundation Website – CoffinSiris.org
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Click here for the SMARCA4 GeneReview
Research Article Summaries
We currently do not have any article summaries for SMARCA4, but we add resources to our website as they become available.
The information available about SMARCA4 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SMARCA4 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SMARCA4 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from SMARCA4 families.
Click here to share your family’s story!